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TBC1D20

GENERAL INFORMATION

Gene name

 TBC1D20

Gene description

 TBC1 domain family, member 20

Protein class

 Disease related genes
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA043613
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
N/A
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Lung

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 TBC1D20 (HGNC Symbol)

Synonyms

 C20orf140, dJ852M4.2

Description

 TBC1 domain family, member 20 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Chromosome

 20

Cytoband

 p13

Chromosome location (bp)

 435480 - 462553

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000125875 (version 83.38)

Entrez gene

 128637

UniProt

 Q96BZ9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96BZ9

Antibodypedia

 TBC1D20 antibodies

PROTEIN BROWSER
TBC1D20-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TBC1D20-004
ENSP00000346139
ENST00000354200
Q96BZ9 [Direct mapping]
TBC1 domain family member 20
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001675 [acrosome assembly]
GO:0002088 [lens development in camera-type eye]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006888 [ER to Golgi vesicle-mediated transport]
GO:0007030 [Golgi organization]
GO:0007283 [spermatogenesis]
GO:0008584 [male gonad development]
GO:0017137 [Rab GTPase binding]
GO:0019068 [virion assembly]
GO:0030173 [integral component of Golgi membrane]
GO:0031965 [nuclear membrane]
GO:0034389 [lipid particle organization]
GO:0043010 [camera-type eye development]
GO:0043547 [positive regulation of GTPase activity]
GO:0044829 [positive regulation by host of viral genome replication]
GO:0046726 [positive regulation by virus of viral protein levels in host cell]
GO:0070309 [lens fiber cell morphogenesis]
GO:0072520 [seminiferous tubule development]
GO:0090110 [cargo loading into COPII-coated vesicle]
GO:1902953 [positive regulation of ER to Golgi vesicle-mediated transport]
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 403 aa
45.9 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.